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Autosomal dominant spastic paraplegia type 9B

disorder
SNOMED 1187466009CUI C5568979

Overview

Autosomal dominant spastic paraplegia type 9B is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cavus foot
Frequent (30-79%)HP:0001761
Extensor plantar responses
Frequent (30-79%)HP:0003487
Gait ataxia, progressive
Frequent (30-79%)HP:0007240
Loss of ambulation
Frequent (30-79%)HP:0002505
Overactive knee reflex
Frequent (30-79%)HP:0007083
Peripheral motor neuropathy
Frequent (30-79%)HP:0007178
Postural tremor
Frequent (30-79%)HP:0002174
Pyramidal tract dysfunction
Frequent (30-79%)HP:0002493
Rigid dysarthria
Frequent (30-79%)HP:0002464
Spastic walk
Frequent (30-79%)HP:0002064
Upper limb hyperreflexia
Frequent (30-79%)HP:0007350
Worsening neurological symptoms
Frequent (30-79%)HP:0002344
Absent Achilles reflex
Occasional (5-29%)HP:0003438
Axonal neuropathy
Occasional (5-29%)HP:0003477
Congenital cataracts, bilateral
Occasional (5-29%)HP:0000519
Degeneration of the spinal cord
Occasional (5-29%)HP:0006827
Fixed flexion at the elbow joint
Occasional (5-29%)HP:0002987
Focal dystonia
Occasional (5-29%)HP:0004373
Gastro-esophageal reflux
Occasional (5-29%)HP:0002020
Peripheral hypotonia
Occasional (5-29%)HP:0001252
Progressive dementia
Occasional (5-29%)HP:0000726

Quick Facts

SNOMED CT
1187466009
UMLS CUI
C5568979
Fully Specified Name
Autosomal dominant spastic paraplegia type 9B (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
21
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.